D30Y (p.Asp30Tyr) variant of DSC2 (Desmocollin-2)
D30Y (p.Asp30Tyr) in DSC2 (Desmocollin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- NCI-TCGA Cosmic COSV5186
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available